Neurodegenerative diseases are chronic debilitating conditions, characterized by progressive loss of neurons that represent a significant health care burden as the global elderly population continues to grow. Over the past decade, high-throughput technologies such as the Affymetrix GeneChip microarrays have provided new perspectives into the pathomechanisms underlying neurodegeneration. Public transcriptomic data repositories, namely Gene Expression Omnibus and curated ArrayExpress, enable researchers to conduct integrative meta-analysis; increasing the power to detect differentially regulated genes in disease and explore patterns of gene dysregulation across biologically related studies. The reliability of retrospective, large-scale integrative analyses depends on an appropriate combination of related datasets, in turn requiring detailed meta-annotations capturing the experimental setup. In most cases, we observe huge variation in compliance to defined standards for submitted metadata in public databases. Much of the information to complete, or refine meta-annotations are distributed in the associated publications. For example, tissue preparation or comorbidity information is frequently described in an article’s supplementary tables. Several value-added databases have employed additional manual efforts to overcome this limitation. However, none of these databases explicate annotations that distinguish human and animal models in neurodegeneration context. Therefore, adopting a more specific disease focus, in combination with dedicated disease ontologies, will better empower the selection of comparable studies with refined annotations to address the research question at hand. In this article, we describe the detailed development of NeuroTransDB, a manually curated database containing metadata annotations for neurodegenerative studies. The database contains more than 20 dimensions of metadata annotations within 31 mouse, 5 rat and 45 human studies, defined in collaboration with domain disease experts. We elucidate the step-by-step guidelines used to critically prioritize studies from public archives and their metadata curation and discuss the key challenges encountered. Curated metadata for Alzheimer’s disease gene expression studies are available for download. Database URL: www.scai.fraunhofer.de/NeuroTransDB.html
PICO recognition is an information extraction task for detecting parts of text describing Participant (P), Intervention (I), Comparator (C), and Outcome (O) (PICO elements) in clinical trial literature. Each PICO description is further decomposed into finer semantic units. For example, in the sentence 'The study involved 242 adult men with back pain.', the phrase '242 adult men with back pain' describes the participant, but this coarse-grained description is further divided into finer semantic units. The term '242' shows "sample size" of the participants, 'adult' shows "age", 'men' shows "sex", and 'back pain' show the participant "condition". Recognizing these fine-grained PICO entities in health literature is a challenging named-entity recognition (NER) task but it can help to fully automate systematic reviews (SR). Previous approaches concentrated on coarse-grained PICO recognition but focus on the fine-grained recognition still lacks. We revisit the previously unfruitful neural approaches to improve recognition performance for the fine-grained entities. In this paper, we test the feasibility and quality of multitask learning (MTL) to improve fine-grained PICO recognition using a related auxiliary task and compare it with single-task learning (STL). As a consequence, our end-to-end neural approach improves the state-of-the-art (SOTA) F1 score from 0.45 to 0.54 for the "participant" entity and from 0.48 to 0.57 for the "outcome" entity without any handcrafted features. We inspect the models to identify where they fail and how some of these failures are linked to the current benchmark data.
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